ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly) (rs137854366)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022358 SCV001184087 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-20 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001050539 SCV001214654 uncertain significance Tuberous sclerosis 2 2019-12-08 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 1454 of the TSC2 protein (p.Ser1454Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Tuberous Sclerosis Complex (PMID: 22903760). However, in that individual pathogenic allele[s] were also identified in TSC1, which suggests that this c.4360A>G variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 49830). This variant has been reported not to substantially affect TSC2 protein function (PMID: 22903760). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Tuberous sclerosis database (TSC2) RCV000043096 SCV000066895 not provided Tuberous sclerosis syndrome no assertion provided curation

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